Intermediate repeat expansion length in C9orf72 may be pathological in amyotrophic lateral sclerosis

被引:46
作者
Byrne, Susan [1 ]
Heverin, Mark [1 ]
Elamin, Marwa [1 ]
Walsh, Cathal [2 ]
Hardiman, Orla [1 ]
机构
[1] Trinity Coll Dublin, Trinity Biomed Sci Inst, Acad Div Neurol, Dublin, Ireland
[2] Trinity Coll Dublin, Trinity Biomed Sci Inst, Dept Stat, Dublin, Ireland
关键词
HEXANUCLEOTIDE REPEAT;
D O I
10.3109/21678421.2013.838586
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
An expanded hexanucleotide repeat in C9orf72 causes amyotrophic lateral sclerosis and frontotemporal dementia. All studies to date state that patients have a pathological expansion if they carry 30 or more repeats. We analysed the frequency of C9orf72 repeat expansions in a population based cohort of patients with ALS, and demonstrate that patients with between 20 and 30 repeats are phenotypically similar to patients with an expanded repeat length above 30 repeats. We propose that an intermediate repeat length may be associated with features of the C9orf72 phenotype in ALS patients.
引用
收藏
页码:148 / 150
页数:3
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